Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NHU2: Variant p.Val369Ile

Cilia- and flagella-associated protein 61
Gene: CFAP61
Feedback?
Variant information Variant position: help 369
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 369 (V369I, p.Val369Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Other resources: help


Sequence information Variant position: help 369
Protein sequence length: help 1237
Location on the sequence: help DISTGYAQYHHVSSRSLASL V LPEEPVHFRPIYRGASAAFC
Residue conservation: help 
Human                         DISTGYAQYHHVSSRSLASLVLPEEPVHFRPIYRGASAAFC

Mouse                         SILS-LVDEEDVASSLSSSLLLSVESSHFRPLYLGDPIAFC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1237 Cilia- and flagella-associated protein 61
Alternative sequence 1 – 644 Missing. In isoform 5 and isoform 6.
Alternative sequence 343 – 402 Missing. In isoform 4.



Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5); VARIANTS ARG-74 AND ILE-369;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.